A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3

Maria Muglia, Angela Magariello, Giuseppe Nicoletti, Alessandra Patitucci, Anna Lia Gabriele, Francesca Luisa Conforti, Rosalucia Mazzei, Manuela Caracciolo, Giorgio Casari, Bonaventura Ardito, Marcello Lastilla, Antonio Gambardella, Aldo Quattrone

Research output: Contribution to journalArticle

Abstract

A large Italian pedigree from southern Italy with autosomal dominant uncomplicated spastic paraplegia is reported. The clinical picture was uniform and characterized by insidiously progressive lower extremity weakness and spasticity. The mean age at onset of symptoms was 8.3 years. Significant linkage to the SPG3 locus on chromosome 14 was detected. The authors also report their search for mutations in a gene located in the region and its exclusion as a candidate for SPG3.

Original languageEnglish
Pages (from-to)1413-1416
Number of pages4
JournalJournal of Neurology
Volume249
Issue number10
DOIs
Publication statusPublished - 2002

Keywords

  • Candidate gene
  • Hereditary spastic paraplegia
  • Linkage

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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    Muglia, M., Magariello, A., Nicoletti, G., Patitucci, A., Gabriele, A. L., Conforti, F. L., Mazzei, R., Caracciolo, M., Casari, G., Ardito, B., Lastilla, M., Gambardella, A., & Quattrone, A. (2002). A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. Journal of Neurology, 249(10), 1413-1416. https://doi.org/10.1007/s00415-002-0856-4